Canonical Allele Identifier: CA1327196925
Gene: ABCA12 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064024G= , CM000664.2:g.215064024G= GRCh38
NC_000002.11:g.215928747G= , CM000664.1:g.215928747G= GRCh37
NC_000002.10:g.215636992G= NCBI36
NG_007074.1:g.79405C=

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.317+42C= MANE Select ENSP00000272895.7:n.317+42C=
ENST00000272895.11:c.317+42C= ENSP00000272895.7:n.317+42C=
NM_173076.2:c.317+42C= NP_775099.2:n.317+42C=
NR_103740.1:n.537+42C=
XM_011510951.1:c.317+42C= XP_011509253.1:n.317+42C=
XM_011510952.1:c.317+42C= XP_011509254.1:n.317+42C=
XM_011510951.2:c.317+42C= XP_011509253.1:n.317+42C=
NM_173076.3:c.317+42C= MANE Select NP_775099.2:n.317+42C=
NR_103740.2:n.735+42C=
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